Wolfgang Berger - Genetic Mutations

Author Information

Wolfgang Berger is affiliated with the Institute of Medical Molecular Genetics, University of Zurich, located in Schlieren, Switzerland. His research primarily focuses on the genetic underpinnings of various diseases, particularly those affecting the retina and other ocular conditions.

Research Contributions

Wolfgang Berger has made significant contributions to the field of genetics with a particular emphasis on ocular diseases. His work encompasses functional characterization of genetic mutations, the timing of sensory deficits in diseases like Norrie disease, and the impact of genetic variants on disease diagnosis and treatment. Notable studies include research on the retinal transcription factor ATOH7, auditory sensory deficits in Norrie disease, and the regulation of ABCA1 by AMD-associated genetic variants. His research employs advanced techniques such as Long-Range PCR-Based NGS and Whole Exome Sequencing to diagnose Mendelian retinal diseases, congenital cataracts, and childhood glaucoma.

Aliases

The author is known by several aliases, including W Berger, W. Berger, and Wolfgang Berger. The most appropriate full name to use is Wolfgang Berger.

Publication and Citation Metrics

Metric	Value
Citation Count	8031
h-index	48
Paper Count	180

Publications:

Functional Characterization of an In-Frame Deletion in the Basic Domain of the Retinal Transcription Factor ATOH7

DOI: 10.3390/ijms23031053

Year: 2022

The timing of auditory sensory deficits in Norrie disease has implications for therapeutic intervention

DOI: 10.1172/jci.insight.148586

Year: 2022

Regulation of ABCA1 by AMD-Associated Genetic Variants and Hypoxia in iPSC-RPE

DOI: 10.3390/ijms23063194

Year: 2022

Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases

DOI: 10.3390/ijms22041508

Year: 2021

Genetic Analysis in a Swiss Cohort of Bilateral Congenital Cataract.

DOI: 10.1001/jamaophthalmol.2021.0385

Year: 2021

Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven Genes

DOI: 10.3390/genes12010065

Year: 2021

Impact of Genetic Variant Reassessment on the Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy Based on the 2010 Task Force Criteria.

DOI: 10.1161/CIRCGEN.120.003047

Year: 2020

Exome Sequencing in a Swiss Childhood Glaucoma Cohort Reveals CYP1B1 and FOXC1 Variants as Most Frequent Causes

DOI: 10.1167/tvst.9.7.47

Year: 2020

The Expression of Decidual Protein Induced by Progesterone (DEPP) Is Controlled by Three Distal Consensus Hypoxia Responsive Element (HRE) in Hypoxic Retinal Epithelial Cells

DOI: 10.3390/genes11010111

Year: 2020

Long-range PCR-based NGS applications to diagnose Mendelian retinal diseases

DOI: 10.1101/2020.11.30.20234971

Year: 2020

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